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Don’t Be In The Dark on Newborn Screening

  • It all began in 1962 when Dr. Robert Guthrie developed a simple blood test to detect the metabolic disorder phenylketonuria (PKU) in newborns. The effectiveness of the PKU test led to the institution of mandatory state newborn screening programs around the nation. This test, now known as the heel stick test, saves hundreds of thousands of newborns every year from severe developmental deficiencies or sudden death caused by otherwise unidentified, and often symptomless conditions. Today, newborn screening tests are available for nearly 60 disorders – from amino acid disorders like phenylketonuria to hemoglobin disorders like beta-thalassemia to even more unpronounceable fatty acid oxidation disorders like carnitine palmitoyltransferase I deficiency.

    Detection of a wide range of serious but treatable health disorders and conditions happen thanks to three screens – a heel stick test, a hearing test, and a pulse ox test, which screens for heart defects. The newborn screening process is also fairly simple. With the first 24 to 48 hours of an infant’s life, a hospital technician pricks the heel and blots the emerging drops of blood with filter paper. Then, the blood spot is sent to a state laboratory for testing. If the results come back abnormal or outside of the normal range, parents are recommended to visit a healthcare professional or their healthcare specialist.

    Although newborn screening programs are available in all 50 states and the 6 territories, requirements vary from state to state. Most states screen for at least 29 of the 31 recommended conditions established by the Recommended Uniform Screening Panel (RUSP), developed through the Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), in 2006. But, all states do not screen for the same 29 conditions in a uniform manner. The lack of uniformity across U.S. newborn screening programs can leave many parents in the dark in the world of newborn screening.

    Baby’s First Test is a newborn screening initiative designed to inform and empower parents, healthcare practitioners, and advocates through the newborn screening system. provides the most extensive information and resources about newborn screening at the local, state, and national levels to make parents, healthcare professionals, and medical practitioners alike have access to up-to-date and relevant information about newborn screening and newborn health. You can also connect with Baby’s First Test on Facebook, Twitter, Pinterest, YouTube, and Tumblr. We at Baby's First Test are so excited to be expanding our outreach and will also be adding more information, stories, and resources to our blog in July. Look out for our themed blog posts - Advocate Wednesday and Hot Topic Fridays - which will touch on advocacy efforts and current news in newborn screening within the coming weeks!

    So when you’re in the dark about newborn screening, always remember – there are 50 states, 6 provinces, 3 screens, and more than 60 disorders, but there’s only 1 resource for newborn screening information:


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